Seven patients with Smith-McCort Dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings

This study provides important data on long-term skeletal findings of the patients with SMC2.PMID:34000439 | DOI:10.1016/j.ejmg.2021.104248

Source: European Journal of Medical Genetics - May 17, 2021 Category: Genetics & Stem Cells Authors: Beyhan T üysüz Filiz Geyik Timur Y ıldırım Dilek Uluda ğ Alkaya Sabine Sharifova Ali Kafadar Source Type: research